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A single ataxia telangiectasia gene with a product similar to PI-3 kinase.
A gene, ATM, that is mutated in the autosomal recessive disorder ataxia telangiectasia was identified by positional cloning on chromosome 11q22-23 and encoded a putative protein that is similar to several yeast and mammalian phosphatidylinositol-3' kinases that are involved in mitogenic signal transduction, meiotic recombination, and cell cycle control.
Mammalian Sir2 Homolog SIRT3 Regulates Global Mitochondrial Lysine Acetylation
- D. Lombard, F. Alt, +17 authors B. Schwer
- Medicine, BiologyMolecular and Cellular Biology
- 8 October 2007
It is demonstrated that SIRT3 has evolved to control reversible lysine acetylation in this organelle and is shown to be a soluble mitochondrial protein.
Architecture of the human regulatory network derived from ENCODE data
The combinatorial, co-association of transcription factors is found to be highly context specific: distinct combinations of factors bind at specific genomic locations.
The ENCODE (ENCyclopedia Of DNA Elements) Project
The ENCyclopedia Of DNA Elements (ENCODE) Project is organized as an international consortium of computational and laboratory-based scientists working to develop and apply high-throughput approaches for detecting all sequence elements that confer biological function.
A User's Guide to the Encyclopedia of DNA Elements (ENCODE)
- R. Myers, J. Stamatoyannopoulos, +311 authors Brian A. Risk
- Biology, MedicinePLoS biology
- 1 April 2011
An overview of the project and the resources it is generating and the application of ENCODE data to interpret the human genome are provided.
Paired-End Mapping Reveals Extensive Structural Variation in the Human Genome
High-throughput and massive paired-end mapping (PEM) was used to map SVs in an African and in a putatively European individual and identified shared and divergent SVs relative to the reference genome, documenting that the number of SVs among humans is much larger than initially hypothesized; many of the SVs potentially affect gene function.
An encyclopedia of mouse DNA elements (Mouse ENCODE)
- J. Stamatoyannopoulos, M. Snyder, +83 authors Leslie B. Adams
- Biology, MedicineGenome Biology
- 13 August 2012
The Mouse E NCODE Consortium is applying the same experimental pipelines developed for human ENCODE to annotate the mouse genome to enable a broad range of mouse genomics efforts.
An integrated encyclopedia of DNA elements in the human genome
The Encyclopedia of DNA Elements project provides new insights into the organization and regulation of the authors' genes and genome, and is an expansive resource of functional annotations for biomedical research.
A comparative encyclopedia of DNA elements in the mouse genome
By comparing with the human genome, this work not only confirms substantial conservation in the newly annotated potential functional sequences, but also finds a large degree of divergence of sequences involved in transcriptional regulation, chromatin state and higher order chromatin organization.
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
- C. Carlson, H. Sirotkin, +11 authors B. Morrow
- Biology, MedicineAmerican journal of human genetics
- 1 September 1997
The extent of the deletion was defined, by genotyping 151 VCFS patients and performing haplotype analysis on 105, and it was found that 83% had a deletion and >90% of these had a similar approximately 3 Mb deletion, suggesting that sequences flanking the common breakpoints are susceptible to rearrangement.